Variant report

Variant	nsv519609
Chromosome Location	chrX:31300162-31322094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:31316037..31318700-chrX:31321039..31322657,2	K562	blood:
2	chrX:31055216..31055947-chrX:31311393..31312206,2	MCF-7	breast:
3	chrX:31311122..31313355-chrX:31314263..31316652,2	K562	blood:
4	chrX:31316037..31318700-chrX:31321039..31322657,2	K562	blood:
5	chrX:31311122..31313355-chrX:31314263..31316652,2	K562	blood:
6	chrX:31231843..31232710-chrX:31311329..31312068,2	MCF-7	breast:

Extended variants
information (count: 289 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6418630	chrX:31300162-31300163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187720143	chrX:31300163-31300164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192684877	chrX:31300300-31300301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183543186	chrX:31300339-31300340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530852321	chrX:31300385-31300386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187993582	chrX:31300391-31300392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149642077	chrX:31300482-31300483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113085283	chrX:31300493-31300494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16998171	chrX:31300547-31300548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192380080	chrX:31300563-31300564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375573125	chrX:31305469-31305470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552606160	chrX:31305600-31305601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12014197	chrX:31305751-31305752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188222780	chrX:31305858-31305859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141028749	chrX:31305943-31305944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191943599	chrX:31305968-31305969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17338430	chrX:31306019-31306020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138935047	chrX:31306055-31306056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369600794	chrX:31306165-31306166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184450369	chrX:31306278-31306279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189207861	chrX:31306288-31306289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373226195	chrX:31306365-31306366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181658472	chrX:31306377-31306378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575873890	chrX:31306448-31306449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185587055	chrX:31306505-31306506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16989494	chrX:31306507-31306508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180720758	chrX:31306547-31306548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17283117	chrX:31306647-31306648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186131492	chrX:31306691-31306692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542531821	chrX:31306719-31306720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7051574	chrX:31306727-31306728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190015767	chrX:31306762-31306763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181298798	chrX:31306765-31306766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73464386	chrX:31306771-31306772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185523644	chrX:31306908-31306909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7051158	chrX:31306959-31306960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190386245	chrX:31306971-31306972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182895108	chrX:31307021-31307022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188887742	chrX:31307265-31307266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200524194	chrX:31307340-31307341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368284123	chrX:31307349-31307350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377407010	chrX:31307376-31307377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374155954	chrX:31307383-31307384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377624966	chrX:31307390-31307391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201780489	chrX:31307395-31307396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199636742	chrX:31307408-31307409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12556585	chrX:31307443-31307444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73464388	chrX:31307457-31307458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12007955	chrX:31307509-31307510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142156162	chrX:31307524-31307525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31299400-31300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chrX:31305400-31306800	Enhancers	Fetal Heart	heart
3	chrX:31306000-31306600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chrX:31306000-31306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:31306200-31307000	Enhancers	Liver	Liver
6	chrX:31306800-31314200	Weak transcription	Fetal Heart	heart
7	chrX:31307000-31309000	Weak transcription	Liver	Liver
8	chrX:31308600-31308800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chrX:31308800-31309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chrX:31309000-31309200	Enhancers	Liver	Liver
11	chrX:31309000-31309400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chrX:31309000-31309800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:31309400-31310000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chrX:31309800-31316800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chrX:31312600-31313000	Enhancers	K562	blood
16	chrX:31315200-31317000	Enhancers	HMEC	breast
17	chrX:31315600-31316600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chrX:31315600-31317400	Enhancers	NHEK	skin
19	chrX:31315800-31316200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chrX:31315800-31316200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chrX:31316000-31316600	Enhancers	Fetal Brain Male	brain
22	chrX:31316000-31317200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chrX:31316800-31317400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:31316800-31317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chrX:31316800-31317600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chrX:31317000-31317600	Enhancers	Liver	Liver
27	chrX:31317200-31317600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chrX:31317400-31319800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chrX:31317600-31318000	Weak transcription	Liver	Liver
30	chrX:31317600-31319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chrX:31318000-31318600	Enhancers	Liver	Liver
32	chrX:31318600-31319800	Weak transcription	Liver	Liver
33	chrX:31318800-31319200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chrX:31319600-31320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chrX:31319800-31320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chrX:31319800-31320200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chrX:31319800-31320200	Enhancers	Liver	Liver
38	chrX:31320000-31320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chrX:31320000-31321000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chrX:31320200-31320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chrX:31320200-31320400	Flanking Active TSS	Liver	Liver
42	chrX:31320200-31321400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chrX:31320200-31323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chrX:31320400-31320600	Enhancers	Liver	Liver
45	chrX:31320400-31321400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chrX:31320400-31321400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chrX:31320600-31320800	Flanking Active TSS	Liver	Liver
48	chrX:31320800-31321000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chrX:31320800-31322400	Enhancers	Liver	Liver
50	chrX:31321000-31321400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links